What is ALS/MND? What is ALS/MND? You are here: Home What is ALS/MND? What is ALS/MND? Motor Neurone Disease (MND) is the name given to a group of diseases in which the nerve cells (neurones) that control muscles undergo degeneration and die. Amyotrophic Lateral Sclerosis (ALS), Progressive Muscular Atrophy (PMA), Progressive Bulbar Palsy (PBP) and Primary Lateral Sclerosis (PLS) are all subtypes of motor neurone disease. Although MND is the widely used generic term in the United Kingdom, Australia and parts of Europe, ALS is used more generically in the United States, Canada and South America. These diseases are also sometimes known as Maladie de Charcot and are often referred to in the United States as Lou Gehrig’s Disease, after the famous baseball player who died of the disease. By any name, ALS/MND is characterised by progressive degeneration of the motor nerve cells in the brain and spinal cord. The motor cells (neurones) control the muscles that enable us to move around, speak, breathe, and swallow. With no nerves to activate them, muscles gradually weaken and waste.

Symptoms may include muscle weakness and paralysis, as well as impaired speaking, swallowing, and breathing. Progress is generally rapid, with an average life expectancy of between 2 and 5 years from the onset of symptoms. Though it can affect anyone, ALS/MND is more often found in the 40 to 70 year age group. The impact on the community of ALS/MND is usually measured by the incidence and prevalence of the disease. Incidence is the number of new cases added in a defined period, usually a year. Prevalence is the number of cases existing at any point in time. The incidence of ALS/MND is 2 per 100,000 of total population, while the prevalence is around 6 per 100,000 of total population. Research has found that the incidence is higher in people aged over 50 years. Only 10% of cases are familial (inherited) with the remaining 90% sporadic. Although classified as a rare disease based on its prevalence, ALS/MND in fact quite common. There are approximately 140,000 new cases diagnosed worldwide each year. That is 384 new cases every day!

The disease affects each individual differently and can have a devastating impact on family, carers, and friends. The rapidly progressive nature of the disease requires constant adaptation to increasing and changing levels of disability, which in turn require increased levels of support. Share this: Lou Gehrig killed by baseball not Lou Gehrig's disease, study findings suggest | Science | The Guardian Medical research Lou Gehrig killed by baseball not Lou Gehrig's disease, study findings suggest Player who gave his name to a type of motor neurone disease more probably died due to brain trauma Yankees hero Lou Gehrig, who gave his name to the disease thought to have killed him, probably died from a baseball blow to the head. Photograph: Richard Hutchings/Corbis. Tuesday 17 August 2010 14.21 EDT First published on Tuesday 17 August 2010 14.21 EDT Close This article is 6 years old Lou Gehrig, a heroic slugger for the Yankees baseball team, was famed for brushing aside repeated fractures and batting after nearly being knocked unconscious, before giving his name to the disease that was said to have killed him.

But a new study suggests that the player may not have died of Lou Gehrig's disease, formally known as amyotrophic lateral sclerosis (ALS), a type of motor neurone disease. Instead, it may have been the baseballs bouncing off his head that claimed his life in 1941. According to a paper to be published tomorrow in a leading journal, Gehrig and a string of American football players and soldiers recorded as dying of ALS, may instead have died due to brain traumas. Research at the Veterans Affairs Medical Centre in Massachusetts and Boston University's medical school have identified markings in the spinal cords of two American football players and a boxer who were said to have died of ALS that suggest they died as the result of a disease caused by concussion or other head trauma that attacks the central nervous system. The finding, published in the Journal of Neuropathology & Experimental Neurology, now means doctors may have to reassess how to treat athletes suffering lasting effects from concussion, and particularly the rising numbers of American soldiers returning from Iraq and Afghanistan with brain injuries caused by roadside bombs.

Gehrig, who built a heroic reputation for playing on despite injuries - he played 2,130 games over 14 years - is not named in the study. But Dr Ann McKee, the director of the neuropathology laboratory for the New England Veterans Administration Medical Centers, and the lead neuropathologist on the study, said that the implication is that he may well have died not from the disease named after him but from the repeated concussions he received on the baseball field as well as when he played American football in school and at university. "Here he is, the face of his disease, and he may have had a different disease as a result of his athletic experience," McKee told the New York Times. The ALS Association in the US says that about 30,000 people have the incurable fatal disease that mostly kills men aged 40 and older by the wasting away their muscles. Among its most prominent victims in the UK is the physicist Stephen Hawking. • This article was amended on 18 August 2010. Due to an editing change, the original said that Lou Gehrig's disease was formerly known as amyotrophic lateral sclerosis (ALS).

The headline said: Lou Gehrig killed by baseball not Lou Gehrig's disease, study finds. This has been corrected. MOTOR NEURONE DISEASE-A Patient's Guide - Family Doctor MOTOR NEURONE DISEASE-A Patient's Guide Dr Barry Snow | -Neurologist | Auckland New-Zealand Abstract This is a serious and progressive condition affecting the nerves that supply the muscles.This article outlines the problems associated and treatment strategies. motor neurone disease Overview Motor neurone disease is also known a ALS (amyotrophic lateral sclerosis). In North America it is often called Lou Gehrig's disease, named after a famous baseball player who developed the condition. Motor neurone disease refers to a group of conditions where the nerves that supply muscles degenerate. These nerves exist in the brain, spinal cord and in the nerves travelling from the spinal cord to the muscles. Motor neurone disease can take different forms depending upon which groups of nerves if most affected. What are the symptoms of motor neurone disease ? This depends upon which nerves are most affected. The muscles supplied by the nerves lose their bulk and become weak. People with the disorder often develop cramps. They may also notice twitching or jumping of the muscles.

It is important to know that twitching and jumping of muscles alone is quite normal in many people, particularly in the calf muscles. The disorder commonly begins in one limb. The person with the condition notices that the limb is becoming progressively weaker. There is no numbness, and, apart from cramps, no pain. As the weakness progresses the muscle starts to shrink. If the main loss of nerves is in the spinal cord, the person may notice stiffness. A common pattern of motor neurone disease is a loss of the spinal cord nerves causing stiffness and clumsiness of the legs and a loss of the nerves to the muscles in the arms causing weakness and shrinkage of the arm muscles. If the disorder begins in the nerves to speaking and swallowing, the person may first develop slurred speech and a tendency to choke on food. How common is motor neurone disease ? About 40-50 people develop motor neurone disease in NZ each year. The average age of onset is 55. Uncommonly, it develops in young people. How long do people survive motor neurone disease ? The average length of survival is 2-4 years. Occasionally, people live longer. How is the diagnosis made ? A neurologist should make the diagnosis.

Most important are the neurologist's assessment of the history and physical examination. The neurologist will probably order extra tests including blood tests, electrical tests of the nerves and muscles known as EMG (electromyography), and, in some patients, a scan of the spinal cord. An important feature of the diagnosis is progression of the disease. For that reason it is sometimes impossible to make the diagnosis with certainty in the early stages. If that is the case, the neurologist will wish to re-examine the person after an interval of weeks or months. What causes motor neurone disease ? About 5% of people with motor neurone disease have a hereditary disorder. Approximately 60 different gene abnormalities have been found causing these familial cases. In the other 90% of people, we do not know what causes the disease. While familial motor neurone disease is rare, it offers special clues as to the possible underlying cause of motor neurone disease. In some patients with familial disease, there are gene mutations in the body's defence systems against free radicals. Free radicals can attack and destroy nerve cells.

This information has given an important clue as to possible treatments that may be developed in motor neurone disease to combat free radicals and, hopefully, slow the progression of the disorder. What is affected in motor neurone disease ? Mobility The limbs become very weak and people have difficulty walking. Weakness of the arms can cause difficulty with dressing and other self care. Eventually the person becomes bed-bound. Speaking and swallowing If the disorder is concentrated on the nerves to the mouth and face the person may develop slurred speech. They may also have difficulty with choking on food. This problem is almost universal in advanced motor neurone disease. Breathing Eventually, motor neurone disease affects the muscles of breathing. This causes progressive shortness of breath and a tendency to develop chest infections. What is the treatment of motor neurone disease ? Currently there is no cure for the condition. The medication riluzole slightly slows the progression of the disorder. Rizuzole has a very modest effect on the disorder. For this reason it is not funded for NZ patients. The main treatment of motor neurone disease is control of the symptoms. Cramps Cramps can be controlled with Vitamin E, certain anti-convulsant medications and quinine.

Mobility Physiotherapy and occupational therapy assessments are often useful. The physiotherapist along with an occupational therapist can advise on various aids for mobility such as walking sticks and frames or wheelchairs. Swallowing disorders People with motor neurone disease who develop swallowing disorders should have an assessment by a speech language therapist. The therapists can advise on alterations in the consistency and nature of various foods to assist with swallowing. If swallowing is a prominent part of the disorder, then certain people benefit from a feeding tube either passed through the nose and down into the stomach or through the abdominal wall. This is known as a PEG. If weight loss is a problem, then a dietitian can often provide helpful advice. Breathing difficulties Appropriate sleeping positions and physiotherapy to clear chest secretions can often help breathing difficulties. Very occasionally patients benefit from a special breathing apparatus that can be worn in bed overnight to help the breathing process. This is a complicated issue as patients can become dependent on the breathing machine. Sometimes this leads to inappropriate prolongation of the disease. Before a breathing machine is started, the person with motor neurone disease and the family must understand clearly that there will come a time when the breathing support should be discontinued.

What are future trends in motor neurone disease ? The discovery of genes for motor neurone disease is very exciting and encouraging. By understanding the functions of these genes, it is possible for scientists to determine the abnormal process causing the degeneration of the nerves. Once that process is understood, medications can be developed to stop or slow that process. While riluzole is not very effective for motor neurone disease, the fact that it works at all suggests that more powerful or effective medications will be developed in the future. Support in New-Zealand. Yes. NZ has an active Motor Neurone Disease Association. There are branches throughout NZ. The National Office can be reached at P O Box 2129, Wellington, ph: 04-473-5555, fax: 04-499-4675, email: mndanz@xtra.co.nz. See also: Did this article meet your requirements/expectations? Feedback Thank you very much for taking the time to send us your comments. They will be very useful to help us make improvements to our content. You may wish to register your interest area (see register area of interest). All mail is reviewed by our medical team.

ALS: Amyotrophic Lateral Sclerosis | Muscular Dystrophy Association ALS: Amyotrophic Lateral Sclerosis ALS: Amyotrophic Lateral Sclerosis #EndALSwithMDA MDA takes a big picture perspective on neuromuscular diseases, including ALS, that limit muscle strength and mobility, so we can reach across diseases to find effective treatments and cures. With our collective strength, we will encourage early diagnosis and action, support families in hometowns across the country and uncover research breakthroughs to help everyone with ALS live longer, stronger lives. Download our ALS Fact Sheet to see how MDA supports families living with ALS and uses your donations to help find treatments and cures. What is amyotrophic lateral sclerosis? ALS is a disease of the parts of the nervous system that control voluntary muscle movement. In ALS, motor neurons (nerve cells that control muscle cells) are gradually lost. As these motor neurons are lost, the muscles they control become weak and then nonfunctional. The word “amyotrophic” comes from Greek roots that mean “without nourishment to muscles” and refers to the loss of signals nerve cells normally send to muscle cells.

“Lateral” means “to the side” and refers to the location of the damage in the spinal cord. “Sclerosis” means “hardened” and refers to the hardened nature of the spinal cord in advanced ALS. In the United States, ALS also is called Lou Gehrig’s disease, named after the Yankees baseball player who died of it in 1941. In the United Kingdom and some other parts of the world, ALS is often called motor neurone diseasein reference to the cells that are lost in this disorder. Who gets ALS? ALS usually strikes in late middle age (the late 50s is average) or later, although it also occurs in young adults and even in children, as well as in very elderly people. Some forms of ALS have their onset in youth. Men are slightly more likely to develop ALS than are women. Studies suggest an overall ratio of about 1.2 men to every woman who develops the disorder. What causes ALS? The causes of the vast majority of ALS cases are still unknown. Investigators theorize that some individuals may be genetically predisposed to developing the disease, but only do so after coming in contact with an environmental trigger.

The interaction of genetics and environment may hold clues as to why some individuals develop ALS. One thing doctors and scientists do know is that ALS cannot be "caught," or transmitted from one person to another. Although the majority of ALS cases are sporadic, meaning there is no family history of the disease, about 5 to 10 percent of cases are familial, meaning the disease runs in the family. A common misconception is that only familial ALS is "genetic." Actually, both familial and sporadic ALS can stem from genetic causes. And some people who have a diagnosis of sporadic ALS may carry ALS-causing genetic mutations that can be passed on to offspring. A genetic counselor can help people with ALS understand inheritance and any associated risks for family members. For a more detailed discussion of possible causes of sporadic ALS and the genetics of familial ALS, please see Causes/Inheritance . What are the symptoms of ALS? ALS results in muscles that are weak and soft, or stiff, tight and spastic. Muscle twitches and cramps are common; they occur because degenerating axons (long fibers extending from nerve-cell bodies) become “irritable.” Symptoms may be limited to a single body region, or mild symptoms may affect more than one region.

When ALS begins in the bulbar motor neurons, the muscles used for swallowing and speaking are affected first. Rarely, symptoms begin in the respiratory muscles. As ALS progresses, symptoms become more widespread, and some muscles become paralyzed while others are weakened or unaffected. In late-stage ALS, most voluntary muscles are paralyzed. The involuntary muscles, such as those that control the heartbeat, gastrointestinal tract and bowel, bladder and sexual functions are not directly affected in ALS. Sensations, such as vision, hearing and touch, are also unaffected. In most cases, ALS does not affect a person’s thinking ability. However, some people with ALS develop some degree of cognitive (thinking) or behavioral abnormality . Usually, cognitive and behavioral symptoms in ALS range from mild (such that only close family members may notice a difference) to moderate. For more information on ALS symptoms, see Signs and Symptoms and Medical Management . What is the life expectancy in ALS? Each person's disease course is unique. There are a number of examples of people who are leading productive and active lives more than two decades after an ALS diagnosis.

Standard longevity statistics citing an average survival time of three to five years after diagnosis may be somewhat out of date because changes in supportive care and technology — especially for breathing and nutrition — may help prolong life. For more information on the disease course, see Medical Management . What can be done about ALS? Medical interventions and technology have vastly improved the quality of life for people with ALS, by assisting with breathing, nutrition, mobility and communication. Proper management of symptoms, and proactive use of medical interventions and equipment, can make a positive difference in day-to-day living, and potentially may lengthen survival. The FDA-approved drug riluzole (brand name Rilutek) has been shown to slightly increase longevity. What is the status of ALS research? A number of strategies and approaches are being tested around the world, both in the laboratory and in human clinical trials. MDA's basic science program is constantly pursuing new avenues of research to understand the underlying causes of ALS, with a sharp focus on developing treatments. One of the most significant breakthroughs in the last decade has been the discovery of a number of genes that, when flawed, cause ALS.

In fact, the genes responsible for causing the majority of the familial forms of ALS are now known — with some of these genes also having been found to be involved in sporadic ALS. Identification of these genes is crucial to moving research forward because it allows researchers to better understand the causes of ALS and design therapies to target them. For details about current ALS research, go to Research and Clinical Trials . Looking for more information, support or ways to get involved? 222 S. Riverside Plaza, Suite 1500 Chicago, Illinois 60606 MNDA of South Africa Donate History Motor Neurone Disease (MND) was first described in the 1850’s by French Neurologists. In 1874 Prof Jean-Martin Charcot called it Amyotrophic Lateral Sclerosis (ALS), its usual name in the USA. There it is also known as 'Lou Gehrig's Disease' named after a pre-war star of the New York Yankees baseball team. Motor Neurone Disease is the term generally used in Europe. Motor Neurones These are the many millions of nerve fibres which go from the cortex (grey matter) of the brain to the muscles in the trunk and limbs.

There are two groups (1) Upper motor neurones which start with cell bodies in the cortex and pass down through the brain to the spinal cord and connect with the (2) Lower motor neurones which have their cell bodies in the spinal cord and brain stem and then pass out into the periphery forming nerve fibres going to muscle fibres. The strength and smoothness of movement and the bulk of muscles depend on the integrity of these nerve fibres. Motor Neurone Disease is due to the degeneration of these motor neurones. Degeneration of the upper motor neurones causes both weakness, stiffness and resistance to movement in the muscles with changes in the reflexes which the doctor can elicit. Degeneration of the lower motor neurones causes wasting of muscles, weakness, fasciculations (flickering of small groups of muscle fibres occurring spontaneously) and muscle cramps. Symptoms MND presents itself in various ways depending on the particular groups of muscle fibres which degenerate initially, Wasting and weakness of muscles of the hands, sometimes one side first, stiffness in the legs with dragging of one leg or the development of marked weakness in the legs may be the initial symptom.

Sometimes the muscles of the tongue and swallowing mechanism are affected early with slurring of speech, difficulty in swallowing and coughing. The disease may remain relatively stationary for some time or may progress to other limbs to the tongue and to the breathing muscles. Death in MND is usually caused by the combined involvement of the swallowing and breathing muscles causing a severe pneumonia. Motor Neurone Disease does not affect the intellect, does not cause bladder or bowel symptoms and does not cause sensory, visual or hearing disorders. Life Expectancy is variable from I year up to 5 years (or occasionally longer) after onset depending on the activity of the disease and the particular muscle groups that are affected. Who gets MND? The majority of people with MND are aged 50 years and older but occasionally people in their 20’s and 30’s develop MND. It is not known why an individual gets MND. There is a male predominance of 2:1. There are rare familial types of the disease. What causes MND? This is not known at all. Suggestions as to the cause include: (a) toxin from the environment. (b) trauma. (c) a virus which lies latent within the system for many years.

(d) a premature degeneration of these nerve cells caused by some in-born defect in their constitution. How is it diagnosed? Usually it is not difficult for the Neurologist to diagnose MND on the basis of the history and signs. Early signs may cause some initial difficulty. There is no specific laboratory test. Sometimes special tests (scans and myelograms) are necessary to exclude other diseases, Usually electrical tests on muscles and nerves are performed and a lumbar puncture may be done. Treatment of MND While research is continuing worldwide, there is at present no treatment which will alter the course of the disease or affect its progression in any way. Treatments given are those which help the person with MND to cope with symptoms and disabilities and may involve drugs to reduce stiffness or resistance to movement. RILUTEK is the only licensed drug, which may help to slow the progression. The involvement of physiotherapists, occupational therapists, speech therapists and the provision of aids at home are all necessary to support the person with MND and the family.

Well-known MND patients Although in the USA almost everyone knows that 'Lou Gehrig's Disease' is actually ALS and what it is, in England and here in South Africa, if you mention MND as being what David Niven had, most people are surprised and pretty vague about the disease and what it entails. Our newsletter 'Thumbs Up' is named for the cheerful gesture used by David Niven during the later stages of his illness. Although he is probably the most widely known MND sufferer this side of the Atlantic there have been surprisingly many well known victims of the disease considering its rarity, only 2 cases per 100,000 people worldwide.

Here are a few of them: Chairman Mao Tse-Tung: World War II bomber ace then charity homes founder Group Capt (later Lord) Leonard Cheshire VC: actor (and father of Sinead) Cyril Cusack: from the art world legendary Australian painter 'Pro' Hart and South African art gallery owner Everard Read: footballers Leeds United and England player/manager Don Revie and Celtic and Scotland star Jimmy Johnstone: Lou Gehrig was followed at the 'Yankees' by All American pitcher Jim 'Catfish' Hunter: Director General of the BBC Sir Ian Trethowan: blues musicians Charlie Mingus and 'Leadbelly': boxer Ezzard Charles: right-to-die activist Diane Pretty. And last but not least American University professor Morrie Schwartz, immortalised by his pupil Mitch Albom in the delightful 'Tuesdays with Morrie' which became Jack Lemmon's last movie. Read the book and rent the DVD. Motor Neurone Disease. ALS information.

MND information | Patient See also: Motor Neurone Disease written for patients Synonyms: amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease (USA form - named for a famous baseball player who succumbed to the disease), Charcot's disease, Charcot's syndrome, Charcot's sclerosis Motor neurone disease (MND) is a rare but devastating illness which leads to progressive paralysis and eventual death. Although rare, many patients are both aware and fearful of it.[ 1 ] It is therefore important in primary care to understand the presentation and to be able confidently to reassure worried patients who are unlikely to have a diagnosis of MND. A review of life-prolonging interventions, symptom-control and disease mechanisms is appropriate for non-specialists and outlined in this article. Most cases of MND are due to ALS. However, other forms occasionally occur. These include: Progressive bulbar palsy - about 2 in 10 people with MND have this type. The muscles first affected are those used for talking, chewing and swallowing. See separate article Bulbar and Pseudobulbar Palsy for more details. Progressive muscular atrophy - this is an uncommon form of MND.

The small muscles of the hands and feet are usually first affected, but muscle spasticity is absent. Primary lateral sclerosis - this is another rare type of MND. It mainly causes weakness in the leg muscles. Some patients with this type may also develop clumsiness in the hands or develop speech problems. Pathophysiology This is a degenerative condition that affects motor neurons, namely the anterior horn cells of the spinal cord and the motor cranial nuclei. It causes lower motor neurone (LMN) and upper motor neurone (UMN) dysfunction, leading to a mixed UMN/LMN picture of muscular paralysis, usually with LMN signs predominating. The cause of the disease is unknown, although 5% of those affected have a familial form of the disease due to a mutation in the superoxide dismutase-1 gene.[ 2 ][ 3 ] Current aetiological hypotheses focus on an abnormality of mitochondrial function causing oxidative stress in motor neurons.

There may be several causes for such oxidative damage to motor neurons and the disease may just represent an end-stage phenotypic expression of these abnormalities.[ 4 ] Click to find out more » Epidemiology MND is relatively uncommon with an annual incidence of about 2 cases per 100,000 population. Prevalence is about 5-7 per 100,000.[ 1 ] General practitioners can expect to see one or two cases in their career.[ 1 ] It can occur at any age but is more common in people aged over 50. The male to female ratio is 2:1.[ 3 ] About 5-10% of cases are inherited.[ 5 ] The mean age of onset is 43-52 years in familial and 58-63 years in sporadic cases of ALS.[ 6 ] Male sex, increasing age and hereditary disposition are the main risk factors.[ 6 ] Presentation[ 3 ] MND is mostly a sporadic disease of middle and elderly life presenting in the sixth and seventh decades. However, it can present in younger patients, usually with familial MND.

The classic form of the disease is also called amyotrophic lateral sclerosis (ALS). It tends to be focal in onset, with a particular group of muscles affected first. This presents In three recognised patterns: Limb onset - by far the most common. Bulbar onset - 20% of cases. Respiratory onset - the least common. ALS:[ 6 ] Presents with symptoms and signs of degeneration of the upper and lower motor neurons, leading to progressive weakness of the bulbar, limb, thoracic and abdominal muscles. Other brain functions, including oculomotor and sphincter function, are relatively spared, but may be involved in some patients. Cognitive dysfunction may occur and 5-15% of patients develop dementia, usually of frontotemporal type. The rarer variants of the disease can present in two ways: With pure UMN features (primary lateral sclerosis). With pure LMN features (progressive muscular atrophy). Symptoms The first sign is usually slurring of the speech (impaired tongue movement). Wasting and fasciculation of the tongue. Dysphagia (usually a late feature with significant speech difficulties).

Accompanying emotional lability (inappropriate laughing or crying) - as with pseudobulbar palsies. Other symptoms are difficulty eating, drooling, dysarthria, dysphonia, choking events with meals, nasal regurgitation of fluids or pulmonary aspiration. Respiratory onset can present with: Dyspnoea and orthopnoea. Clinical features resulting from hypoventilation overnight (for example, waking, unrefreshing sleep, hypersomnolence and early morning headaches).[ 1 ] Rarer features: Pain or sensory disturbance is not unknown but is not a common feature of the disease; it is usually the absence of pain or sensory disturbance that helps to distinguish MND from radiculopathies (nerve root pathology) that can cause a similar presentation in peripheral limbs. Symptoms due to impaired respiratory muscle function usually occur late in the disease but can occasionally be a presenting feature, causing 'air hunger'. Acute respiratory failure has been reported.[ 7 ] Some patients with pseudobulbar palsy may have 'emotional incontinence', an over-reaction to sad or funny events that they are aware of as being abnormal.

Cognitive impairment is not a normal feature but can affect some patients with bulbar palsy. Signs LMD dysfunction in the limbs manifests as weakness, atrophy, fasciculations and hyporeflexia. The thighs are often a site of marked fasciculation. Fasciculation can be difficult to distinguish from arterial pulsation, so consider if there is an underlying arterial course before defining twitching movements as fasciculation. UMN dysfunction manifests as weakness predominating in the arm extensors and leg flexors with evidence of hypertonia, hyper-reflexia and upgoing plantar responses; the bulbar muscles may also show spasticity with an exaggerated jaw jerk. Ocular, sensory or autonomic dysregulation signs are usually late features of the disease. Diagnostic pointers in limb-onset MND[ 1 ] Asymmetrical distal weakness frequently occurs. Brisk reflexes will occur in a wasted limb. There is an absence of major sensory symptoms and pain. There is a relentless progression of symptoms and signs. Diagnostic criteria This is of course a diagnosis which needs a great deal of careful consideration given the poor prognosis. Nevertheless, it is equally important to ensure that the diagnosis is not unduly delayed.

One study found that the average time from suspected diagnosis to confirmation was one year. The authors called for greater educational input in primary and secondary care and a fast-track referral service.[ 8 ] Diagnosis should be made after consideration of the clinical signs and symptoms together with investigations to exclude other causes. Important diagnoses which may cause confusion are listed in the box under 'Differential diagnosis', below. Because of the very variable clinical presentation, the diagnostic criteria below have been devised, taking into account investigations to confirm the diagnosis and refute other possible causes (revised El Escorial Criteria): Presence of: Evidence of LMN degeneration by clinical, electrophysiological or neuropathological examination. Evidence of UMN degeneration by clinical examination. Progressive spread of symptoms or signs within a region or to other regions, as determined by history or examination. Together with the absence of: Electrophysiological and pathological evidence of other disease processes that might explain the signs of LMN and/or UMN degeneration. Neuroimaging evidence of other disease processes that might explain the observed clinical and electrophysiological signs. The World Federation of Neurology (WFN) has proposed further revision in the light of advances in neurophysiological techniques which can accurately detect degenerative neurological changes.

They recommend upgrading the neurophysiological findings and making them as significant as the clinical findings in the diagnosis of ALS. Differential diagnosis The differential diagnosis is vast, dependent on the mode of presentation, clinical findings and comorbidities. Diagnoses of particular importance have been singled out in the box below with features which distinguish them from MND. Important diseases that can mimic MND[ 1 ] Benign cramp fasciculation syndrome: Investigations[ 9 ] There are no specific investigations that will confirm a diagnosis of MND. A range of investigations is carried out to confirm consistent features and exclude other possible pathologies, usually under the direction of a neurologist. It may take several months to decide that the clinical presentation, progression and investigation findings are consistent with the diagnosis. This cautious approach is understandable, given the prognosis of the illness and the devastation that being given the diagnosis may cause to a person's life. The investigations below may be conducted during the course of making the diagnosis: Electrophysiological studies such as EMG and nerve-conduction studies (NCS) will show a characteristic pattern but require careful interpretation, along with a consideration of the clinical features. In MND, EMG shows fibrillation and fasciculations.

The motor units are polyphasic and have high amplitude and long duration. NCS should show normal motor and sensory conduction in MND. More sophisticated techniques have prompted recommendations (Awaji-shima consensus recommendations for the application of electrophysiological tests, as applied to the revised El Escorial Criteria) that the electrophysiological findings should be given equal weight to the clinical findings in the diagnosis of the condition.[ 10 ] CT and/or MRI scanning of the brain and spinal cord are useful in excluding other pathologies with similar presentations. Neuro-imaging is not yet considered to be sufficiently sensitive to assess responses to treatment but the European Federation of Neurological Societies recommends that it should be incorporated into the evaluation of research trials.[ 11 ] Blood tests to exclude other conditions, such as vitamin B12 and folate levels, HIV serology, Lyme disease serology, creatine kinase assay, serum protein electrophoresis, anti-GM1 antibodies (multifocal motor neuropathy with conduction block), urinary hexosaminidase-A assay (Tay-Sachs) and a host of other more specialised tests for rare conditions. Muscle biopsy may be considered to exclude or to diagnose myopathic conditions.

Management[ 12 ] Giving the diagnosis Part of the management of MND is giving the diagnosis and explaining the condition in an appropriately sensitive and informative way. The following points have been made:[ 1 ] This is a difficult task and time; experience and expertise are needed. Follow the well-established good practice principles of breaking bad news . Impart information honestly but without destroying hope. Maintain a positive emphasis on what can be done to help. Although specialists lead the diagnostic and monitoring process, GPs have a large part to play in the day-to-day management of the symptoms arising from the condition and the side-effects of medication.[ 13 ] Non-drug MND is an incurable condition that usually, although not always, leads to death within a few years, with a period of distressing disability preceding it. Thus, the mainstay of management is in supporting the patient, their family and carers through this process and in delivering palliative care at the appropriate juncture.

The following measures are helpful in prolonging the survival of those with MND and in helping them to maintain a sense of health, well-being and control over their lives: A multidisciplinary approach involving GPs, primary care nurses, occupational therapists, physiotherapists, speech therapists, dieticians, respite care providers, home care workers, hospital physicians and neurologists, along with many others, is likely to best serve the patient, and effective communication between all the interested parties is essential. GPs are particularly well placed in ensuring that patients and their carers know where to get information about any social or financial support that may be required.[ 14 ] Regular physical, occupational and speech therapy to maintain strength and utility of the affected motor functions and allow use of aids designed to overcome specific disability problems. Dietetic support to allow adequate hydration and nutrition whilst the patient is able to feed independently, or with the aid of carers. Insertion of a gastrostomy tube should be considered when the patient is no longer able to feed by mouth.

Current practice is to offer the option of enteral feeding to patients, either through percutaneous endoscopic gastrostomy (PEG), percutaneous radiological insertion of gastrostomy, or nasogastric tube (with 10% weight lost or a body mass index below 18.5).[ 1 ] Communication can be greatly enhanced by the use of picture-boards or more advanced IT-based solutions tailored to the individual patient's needs and disabilities. When respiratory function is impaired, physiotherapy helps to clear pulmonary secretions and maintain respiratory health. Positive pressure ventilation may be used in patients who are no longer able to maintain adequate ventilation. This has been shown to improve quality of life and survival greatly.[ 1 ] The machines are small and portable and various face masks are available . Patients quickly get used to wearing the masks overnight. In later stages some patients may use non-invasive ventilation (NIV) during the day, using a small nasal mask.

Non-invasive ventilation The greatest advance in treating MND has been the discovery of the beneficial effects of NIV, in which the patient uses a mask ventilator system (usually bilateral positive airway pressure) overnight during sleep.[ 1 ]National Institute for Health and Care Excellence (NICE) guidelines recommend:[ 15 ] Discussion about NIV at the time of diagnosis and at appropriate opportunities thereafter. The patient should be assessed for the symptoms and signs of respiratory impairment at three-monthly intervals. Patients who meet the NICE criteria for treatment of their respiratory impairment should be offered NIV. However, if the patient suffers from severe bulbar impairment or severe cognitive problems related to their respiratory impairment, NIV should only be offered if the patient has sleep-related symptoms or hypoventilation. If commenced, acclimatisation should occur during the day. Regular treatment should be given at night, before and during sleep. Hours of use should be built up as necessary. In patients with cognitive impairment, issues of capacity and consent may need to be considered.

Drug treatments Riluzole (a neuroprotective glutamate-release inhibitor) is the only drug of proven disease-modifying efficacy.[ 16 ] Its effects are modest, probably only prolonging lifespan by between two and four months. It may have a more significant effect on prolonging tracheostomy-free survival.[ 17 ] It appears to be well tolerated and of greater benefit the earlier it is started in the course of the disease.[ 18 ] It has been shown to act by blocking muscle acetylcholine receptors.[ 19 ] It was hoped that antioxidants might prove beneficial. However, a recent Cochrane review concluded that the use of antioxidants was not supported by currently available clinical trial data.[ 20 ] Other medications may be used to treat symptoms of the disease; for example: Drooling may be reduced by the use of anticholinergics such as hyoscine.[ 21 ] Muscle cramps and spasticity can be treated with agents such as diazepam, baclofen, tizanidine, phenytoin and quinine.

Respiratory distress and the sensation of choking may respond to opioid medications but this must be balanced against their tendency to cause respiratory suppression; they are very useful to treat this symptom in the palliative phase. Depression associated with MND may respond to the use of antidepressant medications. Pain often goes under-recognised and undertreated. It is thought to be due to spasticity but other mechanisms may be operant. The antispasmodic agents listed above are usually helpful but non-steroidal anti-inflammatory drugs and opioids, such as oral morphine, subcutaneous diamorphine and fentanyl patches, are also utilised, particularly in the palliative phase.[ 22 ] End of life care Inevitably, the disease will progress and both patients and carers may wish to discuss the terminal phase of the illness. Careful discussion about this at a pace determined by the patient, family and carers helps to shape what form care will take. Issues which frequently come up include: Hospice care - this may be useful in the later stages of the disease for respite. Advance directives - information on these can be given and this can help implementation of patients' wishes.

Management of symptoms - for example: Respiratory distress - this can be treated with opiates. Choking - lorazepam sublingually can quickly relieve choking episodes. Dyspnoea - if severe and prolonged, is an indication for subcutaneous morphine. Complications Pneumonia due to infection or aspiration. Urinary tract infections. Spasticity and cramping of muscles. Depression Loss of speech as a means of communication. Immobility and attendant disability. Complications of immobility such as skin infections/bedsores and ulcers. Cognitive deterioration is rare but is seen occasionally. Prognosis MND is usually a rapidly progressive and fatal disease but the rate of progression is variable.[ 23 ] Median survival is two to four years.[ 24 ] End of life care with all that this implies needs a co-ordinated sensitive approach. More than 90% of patients die in their sleep, as a result of increasing hypercapnia (respiratory failure with or without pneumonia) and choking to death is not seen in clinical practice.[ 1 ] There appears to be a small subgroup of patients (5-10%) surviving for a decade or more.[ 6 ] .

Managing saliva problems in motor neurone disease ; Motor Neurone Disease Association Chio A, Canosa A, Gallo S, et al ; Pain in amyotrophic lateral sclerosis: a population-based controlled study. Eur J Neurol. 2012 Apr;19(4):551-5. doi: 10.1111/j.1468-1331.2011.03540.x. Epub Simon NG, Turner MR, Vucic S, et al ; Quantifying disease progression in amyotrophic lateral sclerosis. Ann Neurol. 2014 Nov;76(5):643-57. doi: 10.1002/ana.24273. Epub 2014 Sep 30. Chio A, Logroscino G, Traynor BJ, et al ; Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiology. 2013;41(2):118-30.

doi: 10.1159/000351153. Epub 2013 Jul 11. Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions . Original Author: Amyotrophic lateral sclerosis (ALS) Amyotrophic lateral sclerosis (ALS) Would you like to know what lab results mean? Medical Tests Analyzer Software helps to understand and explains your blood test. Amyotrophic lateral sclerosis (ALS), is a serious neurological disease that causes muscle weakness, disability and eventually death. ALS is often called Lou Gehrig's disease, after the famous baseball player who was diagnosed with it in 1939. In the USA, ALS and motor neuron disease (MND) are sometimes used interchangeably. Worldwide, ALS occurs in 1 to 3 people per 100,000. In the vast majority of cases, 90 to 95 percent, doctors don't yet know why ALS occurs.

About 5 to 10 percent of ALS cases are inherited. ALS often begins with muscle twitching and weakness in an arm or leg, or with slurring of speech. Eventually, ALS affects your ability to control the muscles needed to move, speak, eat and breathe. Early signs and symptoms of ALS include: Difficulty lifting the front part of your foot and toes (footdrop); Weakness in your leg, feet or ankles; Hand weakness or clumsiness; Slurring of speech or trouble swallowing; Muscle cramps and twitching in your arms, shoulders and tongue; The disease frequently begins in your hands, feet or limbs, and then spreads to other parts of your body. As the disease advances, your muscles become progressively weaker until they're paralyzed. It eventually affects chewing, swallowing, speaking and breathing. Symptoms: Overview - Amyotrophic lateral sclerosis - Mayo Clinic Amyotrophic lateral sclerosis Print Amyotrophic lateral sclerosis (a-my-o-TROE-fik LAT-ur-ul skluh-ROE-sis), or ALS, is a progressive nervous system (neurological) disease that destroys nerve cells and causes disability. ALS is often called Lou Gehrig's disease, after the famous baseball player who was diagnosed with it.

ALS is a type of motor neuron disease in which nerve cells gradually break down and die. Doctors usually don't know why ALS occurs. Some cases are inherited. ALS often begins with muscle twitching and weakness in a limb, or slurred speech. Eventually, ALS affects control of the muscles needed to move, speak, eat and breathe. There is no cure for ALS, and eventually the disease is fatal. References Amyotrophic lateral sclerosis (ALS) fact sheet. National Institute of Neurological Disorders and Stroke. Accessed July 12, 2016. Elman LB. Clinical features of amyotrophic lateral sclerosis and other forms of motor neuron disease. Accessed July 12, 2016. Maragakis NJ. Epidemiology and pathogenesis of amyotrophic lateral sclerosis. Accessed July 12, 2016. McCluskey L. Familial amyotrophic lateral sclerosis. Accessed July 12, 2016. Ingre C, et al. Risk factors for amyotrophic lateral sclerosis. Clinical Epidemiology. 2015;7:181. Crum BA (expert opinion). Mayo Clinic, Rochester, Minn.

July 25, 2016. Galvez-Jimenez N. Symptom-based management of amyotrophic lateral sclerosis. Accessed July 12, 2016. Elman LB, et al. Diagnosis of amyotrophic lateral sclerosis and other forms of motor neuron disease. Accessed July 12, 2016. Miller RG, et al. Practice parameter update: The care of the patient with amyotrophic lateral sclerosis: Multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology. 2009;73:1227. Neurological diagnostic tests and procedures. National Institute of Neurological Disorders and Stroke. Accessed July 12, 2016. Choudry RB, et al. Disease modifying treatment of amyotrophic lateral sclerosis. Accessed July 12, 2016. ALS Association chapter support groups. The ALS Association. , Accessed July 12, 2016. Services in your community. The ALS Association.

Accessed July 12, 2016. Riggin ER. Allscripts EPSi. Mayo Clinic, Rochester, Minn. May 10, 2016. Related Lou Gehrig's Disease (ALS) Lou Gehrig's Disease (ALS) Esclerosis lateral amiotrófica What Is Lou Gehrig's Disease? Lou Gehrig's disease is a disorder that's also called amyotrophic lateral sclerosis (say: ah-my-uh-TRO-fik LA-tuh-rul skluh-RO-sis), or ALS. The official name comes from these Greek words: "a" for without "lateral" for side (of the spinal cord) "sclerosis" for hardening or scarring So, amyotrophic means that the muscles have lost their nourishment. When this happens, they become smaller and weaker. Lateral means that the disease affects the sides of the spinal cord, where the nerves that nourish the muscles are located; and sclerosis means that the diseased part of the spinal cord develops hardened or scarred tissue in place of healthy nerves.

ALS is often called Lou Gehrig's disease after Lou Gehrig, a hall-of-fame baseball player for the New York Yankees who was diagnosed with ALS in the 1930s. People in England and Australia call ALS motor neurone disease (MND). The French refer to it as maladie de Charcot, after the French doctor Jean-Martin Charcot, who first wrote about ALS in 1869. Lou Gehrig's disease damages motor neurons in the brain and spinal cord. Motor neurons are nerve cells that control muscle movement. Upper motor neurons send messages from the brain to the spinal cord, and lower motor neurons send messages from the spinal cord to the muscles. Motor neurons are an important part of the body's neuromuscular system. The neuromuscular system enables our bodies to move and is made up of the brain, many nerves, and muscles. Things that we do every day — like breathing, walking, running, lifting stuff, and even reaching for a glass of water — are all controlled by the neuromuscular system.

Here's how the neuromuscular system works: If you want to make a fist, your brain first sends signals through upper motor neurons to the area in your spinal cord that controls your hand muscles. Then lower motor neurons in your spinal cord signal the muscles in your hand to move and make a fist. Over time, Lou Gehrig's disease causes these motor neurons in the brain and spinal cord to shrink and disappear, so that the muscles no longer receive signals to move. As a result, the muscles become smaller and weaker. Gradually the body becomes paralyzed, which means that the muscles no longer work. However, someone with ALS, even at an advanced stage, can still see, hear, smell, and feel touch. The nerves that carry feelings of hot, cold, pain, pressure, or even being tickled, are not affected by Lou Gehrig's disease. In some people with ALS, the parts of the brain that allow us to think, remember, and learn also are affected by the disease. continue Rare Among Kids Although this disease can strike anyone, it is extremely rare in kids. According to the ALS Association, most people who develop Lou Gehrig's disease are adults between 40 and 70.

Only 2 out of every 100,000 people will get the disease each year. Because it is not contagious, you can't catch ALS from someone who has the disease. Among ALS cases in the United States, 5% to 10% are hereditary, which means the disease runs in certain families. This is called familial (say: fuh-MEE-lee-ul) ALS. At least 90% of cases are not inherited; this is called sporadic (say: spuh-RAH-dik) ALS. How Is the Disease Diagnosed? Lou Gehrig's disease doesn't always begin or become worse in the same way. The disease is different for every person who has it. In general, muscle weakness, especially in the arms and legs, is an early symptom for more than half of people with ALS. Other early signs are tripping or falling a lot, dropping things, having difficulty speaking, and cramping or twitching of the muscles. As the disease gets worse over time, eating, swallowing, and even breathing may become difficult. It may take several months to know for sure that someone has Lou Gehrig's disease.

The illness can cause symptoms similar to other diseases that affect nerves and muscles, including Parkinson's disease and stroke. A doctor will examine the patient and do special tests to see if it might be one of those other disorders. (It's like using the process of elimination to figure out the answer to a multiple-choice question on a test.) One of the tests, an electromyogram (say: eh-lek-tro-MY-uh-gram), or EMG, can show that muscles are not working because of damaged nerves. Other tests include X-rays, magnetic resonance imaging (MRI), a spinal tap, and blood and urine evaluations. Sometimes a muscle or nerve biopsy is needed. A biopsy is when a doctor takes a tiny sample of tissue from the body to study under a microscope. Examining this tissue can help the doctor figure out what's making someone sick. previous continue How Is the Disease Treated? Currently, there's no way to prevent or cure Lou Gehrig's disease, but a number of treatments are available to people with the disease. Medicines can control symptoms, such as muscle cramping and difficulty swallowing, and other drugs can slow the development of the disease. Physical therapy can help people with ALS cope with muscle loss and breathing problems.

Special equipment is also provided when it becomes necessary. For instance, a power wheelchair can enable a paralyzed person with ALS to get around. A machine called a ventilator (say: VEN-ti-lay-ter) can help a someone breathe. In addition, a nurse or other health assistant may come to the person's home to provide care that the family cannot handle alone. It's normal for family members to feel upset, overwhelmed, and sad if a loved one has ALS. Counseling, as well as support from other family members and friends, can make it easier to deal with the challenges they face. Living With Lou Gehrig's Disease According to the ALS Association, about half of all people with ALS live at least 3 years after they find out they have the disease, and 20% (or 1 in 5) live 5 years or more. As many as 10% will survive more than 10 years. Stephen Hawking has been living with Lou Gehrig's disease for about 50 years — ever since his diagnosis at age 21. He is the most famous long-term survivor of the disease. Born in England, Hawking is a famous physicist who furthered our understanding of the universe.

He has written a lot of books, including the bestseller A Brief History of Time. He has done these things despite being confined to a wheelchair for many years, being able to move only a few fingers, and needing a voice synthesizer and special computer to speak and write. Hawking, who has a wife and three children, once said, "The prospect of a short life made me want to do more. I realized life was good, and there was a great deal I wanted to do." Living with Lou Gehrig's disease is physically difficult, but it is reassuring to know that the mind is not affected. People with the disease can think as clearly as ever, are able to maintain relationships with friends and family, and should be treated respectfully and normally. Communication can be difficult because the disease affects the person's breathing and the muscles needed for speech and arm movement. With patience, the families of patients with ALS can learn to communicate effectively with their loved one. Researchers continue to study ALS as they try to understand why it happens, and how the disease damages the motor neurons in the brain and spinal cord. As they learn more about the disease, researchers can continue to develop new and better treatments.

Professor Hawking said, "[ALS] has not prevented me from having a very attractive family, and being successful in my work . . . I have been lucky that my condition has progressed more slowly than is often the case. But it shows that one need not lose hope."

Question: In the USA, motor neurone disease is often named after which baseball player?
Answer: Lou Gehrig